Sensory reactivity symptoms are a core feature of ADNP syndrome irrespective of autism diagnosis

Background: Activity dependent neuroprotective protein (ADNP) syndrome is one of the most common single-gene causes of autism spectrum disorder (ASD) and intellectual disability, however, the phenotypes remain poorly described. Here we examine the sensory reactivity phenotype in children and adolescents with ADNP syndrome. Methods: Twenty-two individuals with ADNP syndrome received comprehensive clinical evaluations including standardized observations, caregiver interviews, and questionnaires to assess sensory reactivity symptoms. Relationships between sensory symptoms and age, sex, ASD, IQ, and adaptive behavior were examined. Genotype-phenotype correlations with the recurrent p.Tyr719* variant were also explored. Results: Sensory reactivity symptoms were observed and reported in all participants. A syndrome-specific phenotype was identified, characterized by high levels of sensory seeking across tactile, auditory, and visual domains. Tactile hyporeactivity, characterized by pain insensitivity, was reported in the majority of participants. Sensory symptoms were identified across individuals regardless of age, sex, IQ, adaptive ability, genetic variant, and most importantly, ASD status. No significant differences were identified between participants with and without the recurrent p.Tyr719* variant on any sensory measure. Conclusions: Sensory reactivity symptoms are a common clinical feature of ADNP syndrome. Quantifying sensory reactivity using existing standardized measures will enhance understanding of sensory reactivity in individuals with ADNP syndrome and will aid in clinical care. The sensory domain may also represent a promising target for treatment in clinical trials

Developing Autism Screening Criteria for the Brief Infant Toddler Social Emotional Assessment (BITSEA)

There is a critical need for valid and reliable research-based developmental and autism spectrum disorder (ASD) specific screening measures designed for use in young children. These tools are used in pediatric and educational settings to ensure that children at risk for developing socioemotional disorders and/or an ASD are provided with the early intensive services needed to optimize long-term outcomes. The Brief Infant-Toddler Social and Emotional Assessment (BITSEA) is a short screening tool that helps to identify young children between the ages of 12 and 36 months who may have socioemotional and behavioral problems and/or delays, or deficits in social-emotional competence. Among the 42 items on the BITSEA, there are 17 items that the authors have identified as consistent with behaviors seen in ASD. The current project proposes to develop cut point scores for the ASD subscales of the BITSEA using Receiver Operating Curve (ROC) plots through secondary data analysis of a sample of young children with and without ASD. The findings of the current study will contribute to overarching goal of increased early detection and diagnosis of ASD

Diagnostic Stability of Autism Spectrum Disorder in Young Children with Diverse Backgrounds

Autism spectrum disorder (ASD) is typically considered to be a lifelong neurodevelopmental disorder and a great deal of research supports the stability of the diagnosis over time (e.g., Chawarska et al, 2007; Eaves & Ho, 2004; Wiggins et al., 2012). However, recent studies have reported a small subset of children, referred to as the “optimal outcome” group, who are diagnosed in early childhood, show improvement over time, and ultimately do not meet criteria for the diagnosis at follow up (e.g., Fein et al., 2013; Kleinman et al., 2008; Ozonoff et al., 2015). The question of diagnostic stability of ASD has become an increasingly active focus of research and is relevant to scientific and clinical issues regarding prevalence, utility of early intervention, families’ experience of the diagnosis, and developmental trajectories of ASD symptoms (e.g., Cox et al., 1999; Lord & Bishop, 2010; Woolfenden et al., 2012). Prior research on the diagnostic stability of ASD has been constrained by small and homogenous samples, short follow up time periods, and inconsistent diagnostic procedures, thus limiting the generalizability of findings. The current study conducted follow up evaluations of 60 children (86.7% male, mean age = 51.3 months) with diverse backgrounds (79.7% racial/ethnic minorities) who received initial ASD diagnoses before 36 months of age, with variability in age at initial diagnosis, age at follow up, and duration of interval between initial diagnosis and follow up evaluation. Seven children (11.7%) did not meet diagnostic criteria for ASD at follow up, a proportion consistent with previous studies. On average, children demonstrated significant cognitive gains and ASD symptom improvement over time. Clinical implications of findings are discussed